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[TAR syndrome (congenital thrombocytopenia and aplasia of the radial bones) in a 5-months-old boy].
Wiad Lek. 1992 Jan; 45(1-2):66-9.WL

Abstract

A boy aged 5 months had the TAR syndrome (thrombocytopenia and aplasia of radial bones) of autosomal recessive inheritance. Bilateral reduction of the length of the upper extremities included both forearm bones and humerus, so that the shoulder girdle was connected directly to the hand, with all fingers and thumb normally shaped. These skeletal anomalies were associated with thrombocytopenia. Various other abnormalities were present, with the most controversial anomaly being bilateral cleft of the lip and secondary palate. It may be an accidental coexistence of abnormalities or may suggest a common mechanism of the development of the TAR syndrome, Roberts syndrome and SC-phocomelia belonging to hereditary reduction of the extremities with identical mode of inheritance.

Authors+Show Affiliations

Zakładu Genetyki Klinicznej Instytutu Połoznictwa i Chorób Kobiecych Ak. Med., Białymstoku.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

pol

PubMed ID

1295244

Citation

Midro, A T., et al. "[TAR Syndrome (congenital Thrombocytopenia and Aplasia of the Radial Bones) in a 5-months-old Boy]." Wiadomosci Lekarskie (Warsaw, Poland : 1960), vol. 45, no. 1-2, 1992, pp. 66-9.
Midro AT, Iwaszkiewicz-Pawłowska A, Puchnarewicz A, et al. [TAR syndrome (congenital thrombocytopenia and aplasia of the radial bones) in a 5-months-old boy]. Wiad Lek. 1992;45(1-2):66-9.
Midro, A. T., Iwaszkiewicz-Pawłowska, A., Puchnarewicz, A., & Debek, K. (1992). [TAR syndrome (congenital thrombocytopenia and aplasia of the radial bones) in a 5-months-old boy]. Wiadomosci Lekarskie (Warsaw, Poland : 1960), 45(1-2), 66-9.
Midro AT, et al. [TAR Syndrome (congenital Thrombocytopenia and Aplasia of the Radial Bones) in a 5-months-old Boy]. Wiad Lek. 1992;45(1-2):66-9. PubMed PMID: 1295244.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [TAR syndrome (congenital thrombocytopenia and aplasia of the radial bones) in a 5-months-old boy]. AU - Midro,A T, AU - Iwaszkiewicz-Pawłowska,A, AU - Puchnarewicz,A, AU - Debek,K, PY - 1992/1/1/pubmed PY - 1992/1/1/medline PY - 1992/1/1/entrez SP - 66 EP - 9 JF - Wiadomosci lekarskie (Warsaw, Poland : 1960) JO - Wiad Lek VL - 45 IS - 1-2 N2 - A boy aged 5 months had the TAR syndrome (thrombocytopenia and aplasia of radial bones) of autosomal recessive inheritance. Bilateral reduction of the length of the upper extremities included both forearm bones and humerus, so that the shoulder girdle was connected directly to the hand, with all fingers and thumb normally shaped. These skeletal anomalies were associated with thrombocytopenia. Various other abnormalities were present, with the most controversial anomaly being bilateral cleft of the lip and secondary palate. It may be an accidental coexistence of abnormalities or may suggest a common mechanism of the development of the TAR syndrome, Roberts syndrome and SC-phocomelia belonging to hereditary reduction of the extremities with identical mode of inheritance. SN - 0043-5147 UR - https://www.unboundmedicine.com/medline/citation/1295244/[TAR_syndrome__congenital_thrombocytopenia_and_aplasia_of_the_radial_bones__in_a_5_months_old_boy]_ L2 - http://www.diseaseinfosearch.org/result/6998 DB - PRIME DP - Unbound Medicine ER -